Case Report
A Newborn with Panhypopituitarism and Seizures
Table 1
Clinical features in patients with panhypopituitarism and interstitial deletions of 20p11 overlapping regions.
| Characteristic traits | Present study | Williams et al., 2011 [5] | Garcia-Heras et al., 2005 [6] | Kamath et al., 2009 [4], case # 20 |
| Chromosomal deletion | 20p11.21p12.1 | 20p11.21p11.23 | 20p11.1p12 | 20p11.1p12.2 | Gender | Female | Female | Male | Male | Panhypopituitarism | + | + | + | + | Cognitive delay | + | + | NS | + | Congenital heart disease | + | + | − | − | Gastrointestinal system anomalies | + | + | NS | − | Genitourinary system anomalies | + | NS | + | − | Hypoglycemia | + | NS | + | NS | Abnormal brain imaging study | + | + | + | + | Seizures | + | + | NS | NS | Flat nasal bridge | + | + | + | − | Cleft lip/palate | − | + | − | NS | Retrognathia | + | − | + | NS | Low set ears | + | + | NS | NS | Preauricular pits | − | + | + | NS | Vertebral defects | − | + | − | − |
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NS: not specified.
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